tbuckley/cabot-search huggingface dataset:
Abstract 3473: Comprehensive genetic screening in hereditary colorectal cancer
Authors: Anna Rohlin, Frida Eiengård, Emma Mårtensson, Theofanis Zagoras, Samuel Gebre-Medhin, Margareta Nordling
Journal: Cancer Research (2019)

Abstract High-penetrant pathogenic variants in established genes associated with hereditary colorectal cancer (CRC) explain the disease in approximately 5-6% of cases. In as much as 20%-30% of all, including sporadic CRC cases, genetic factors are thought to play a significant role. Dependent on technical as well as limitations due to interpretation challenges, the high-penetrant pathogenic variants are gathered in the exonic regions of the genes. Contributions of pathogenic variants in genes, not traditionally associated with hereditary CRC have also recently been recognized. It is crucial for the patients to get a correct molecular diagnosis that allows for adequate follow-up since the majority of the syndromes include predisposition also for tumors in other organs. A comprehensive panel including high-penetrant susceptibility genes as well as genes not generally associated with hereditary CRC was used for the analyses. Sequencing of 50 kb upstream and downstream of all genes including intronic regions were performed. All SNVs and CNVs in exons were thoroughly evaluated concerning pathogenicity and also intronic and intragenic sequences were screened for the presence of possibly pathogenic variants. In addition, cDNA were analysed to detect variants in splice-sites as well as aberrations causing other effects on mRNA level. The study included 206 patients referred to the Cancer Genetics Counselling Clinic in Gothenburg, Sweden. The spectra of pathogenic variants in well-known high-penetrance predisposition genes as well as the contribution of pathogenic variants in low-penetrant genes were determined. The contribution of pathogenic variants also in “non-CRC” genes was examined. The findings include identification of previously unreported variants and putative causative variants in unexplained patients with hereditary CRC. An attempt to identify putative genetic variants that could explain the variability in cancer risk among carriers of specific variants in high-penetrance genes was also made. Citation Format: Anna Rohlin, Frida Eiengård, Emma Mårtensson, Theofanis Zagoras, Samuel Gebre-Medhin, Margareta Nordling. Comprehensive genetic screening in hereditary colorectal cancer [abstract]. In: Proceedings of the American Association for Cancer Research Annual Meeting 2019; 2019 Mar 29-Apr 3; Atlanta, GA. Philadelphia (PA): AACR; Cancer Res 2019;79(13 Suppl):Abstract nr 3473.
Underreporting of AIDS in South Carolina
Journal: JAMA (1990)

<h3>To the Editor.—</h3> In their article on underreporting of cases of acquired immunodeficiency syndrome (AIDS) in South Carolina, Conway and coworkers<sup>1</sup>quote high reporting levels (83% to 100%) from other studies done in moderate-incidence (Washington State) and high-incidence (New York City) areas under active surveillance programs. In their accompanying editorial, Buehler et al<sup>2</sup>point out that when health departments take an active approach to surveillance, AIDS reporting increases from the lower levels measured in South Carolina under passive reporting. Active surveillance activities include ongoing, regular contact with key hospitals, physicians, and other health care providers to solicit AIDS case reports actively. Michigan is, like South Carolina, a moderate-incidence state for AIDS, but, unlike in South Carolina, the Michigan Department of Public Health carried out its validation studies after the January 1986 initiation of our active surveillance program. We did our initial validation study at two of Michigan's largest
Sequential mitoxantrone, daunorubicin, and cytosine arabinoside for patients with newly diagnosed acute myelocytic leukemia
Authors: P A Paciucci, J Cuttner, A Gottlieb, R B Davis, O Martelo, J F Holland
Journal: American Journal of Hematology (1997)

Mitoxantrone (M) is a synthetic aminoanthraquinone with anti-leukemic activity in patients with daunorubicin (D) resistant acute leukemia. The Cancer and Leukemia Group B (CALGB) has undertaken a limited access pilot study in which M, 12 mg/m2, over 30 min, daily for 3 days, and cytosine arabinoside (Ara-C), 100 mg/m2/day by constant infusion for 7 days were used for the induction of newly diagnosed patients with AML. Responding patients were consolidated with daunorubicin, 45 mg/m2/day for 3 days, and 7 days of Ara-C. After a second consolidation identical to induction, no further therapy was given. Twenty-nine patients with a median age of 50 years (range 18-72) were entered in the study; 18 were males and 11 females. Twenty-four (83%) patients achieved CR, 1 patient achieved a PR, and 4 died in induction from leukemia-related causes. Two patients died in CR from consolidation-related neutropenic sepsis and two additional patients died in CR. Of 24 patients, 7 remain disease-free at a median follow-up interval of 8 years. The regimen is active and well tolerated. The duration of disease-free survival in responding patients is consistent with that seen in similar regimens using intensification chemotherapy without prolonged maintenance.
THE LOMB PRIZE ESSAY AND THE NEW YORK HERALD.
Journal: JAMA (1889)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Erratum: Targeting c-MET in gastrointestinal tumours: rationale, opportunities and challenges
Authors: Conor A. Bradley, Manuel Salto-Tellez, Pierre Laurent-Puig, Alberto Bardelli, Christian Rolfo, Josep Tabernero, Hajrah A. Khawaja, Mark Lawler, Patrick G. Johnston, Sandra Van Schaeybroeck
Journal: Nature Reviews Clinical Oncology (2018)
Baltimore.
Journal: JAMA (1899)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Summer Discord
Authors: John Lister
Journal: New England Journal of Medicine (1967)

THE patient with dementia may sometimes be disarmingly plausible and at first appear superficially normal, the underlying state of confusion only being revealed by probing questions. Thus it was with a previously highly intelligent woman recently seen in consultation. She greeted her doctors amiably, inquired after their health and discussed the weather. When asked il she read the newspapers, she said that she did, but she passed off the direct question about what she had read with the general remark, "Oh – just the usual – marriages and discords." When she was pressed to be more specific, by a question . . .
Pericarditis associated with inflammatory bowel disease
Authors: D. Mukhopadhyay
Journal: JAMA (1970)

Pericarditis associated with inflammatory bowel disease occurred in three patients. This is an uncommon extraintestinal complication of inflammatory bowel disease, but it is one that should not be overlooked and one that further emphasizes the systemic nature of these diseases. Two of the patients had ulcerative colitis, and a third had probable granulomatous colitis. All three patients recovered from the pericarditis; however, one patient had repeated exacerbations of the pericarditis requiring corticosteroid therapy. We recommend corticosteroid treatment for this complication.
PERITORAL DERMATITIS
Authors: N. HJORTH, P. OSMUNDSEN, A. J. ROOK, D. S. WILKINSON, R. MARKS
Journal: British Journal of Dermatology (1968)

SUMMARY. —Forty cases of a perioral dermatitis, chiefly affecting young women, are described. All have been seen in Denmark and England within the last 18 months. The condition is believed to be quite common. The clinical features are characteristic. A papulosquamous eruption affects the chin and nasolabial folds and often the upper lip but almost always spares a clear zone around the vermilion border of the lips, The lower part of the cheeks and glabellar region are less commonly involved. The eruption pursues a fluctuating course with closely‐set small papules arising on patchy or diffuse erythema. It is extremely resistant to treatment. The aetiology is quite unknown. There is no evidence to incriminate topical agents, infection, hormonal influences, light sensitivity or emotional stress.
The poor quality of early evaluations of MRI
Authors: Robert N. Berk, Stanley S. Siegelman
Journal: JAMA (1988)

<h3>To the Editor.—</h3> In the article in<i>JAMA</i>entitled "The Poor Quality of Early Evaluations of Magnetic Resonance Imaging," Cooper et al<sup>1</sup>purport to show that articles published in the literature between 1980 and 1984 on the clinical efficacy of magnetic resonance imaging (MRI) are seriously flawed by the lack of proper quantitative methods. They studied 54 articles published during this time for evidence of research planning, appropriate use of terms (sensitivity, specificity, predictive value, and accuracy), presentation of a gold standard, randomization of tests, blinding of the interpreter, and statistical analysis. We believe that these early descriptive studies of MRI were not of "poor quality"; they achieved their limited goals. Most were preliminary works whose purpose was to assess the feasibility of examining patients, to determine optimal techniques, to describe the range of appearances of normal structures, and to develop diagnostic criteria for the presence or absence of
Atypical or suspicious cervical smears. An aggressive diagnostic approach
Authors: I. Nyirjesy
Journal: JAMA (1972)

In a study of 26,745 screening examinations, 434 patients with atypical and 95 patients with suspicious cervical cytosmears were identified. With specific antivaginitis treatment 84% of the findings from smears reverted from atypical to negative; patients with second smears showing atypical results were subjected to biopsies that yielded cancer in 18 and dysplasia in 26 of 57 patients. Biopsy specimens verified cancer in 40 and dysplasia in 26 of the 79 patients with initial suspicious smears. Repeat smears taken immediately prior to biopsies were false-negative in 19 of these patients.
Gastric Freezing: An Experimental Study
Journal: JAMA (1963)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
Correction
Journal: BMJ (1965)

urged that doctors in occupational health should be represented not only on the proposed regional B.M.A. councils but also on Council itself and in the Representative Body.Urging that the Chairman of the Occupational Health Committee should be ex officio a member of Council, Dr. Vaughan Jones stressed that that was important, because the interests of occupational health were concerned in many matters not directly related to occupational health which were discussed by the Council.Relatively speaking, there were few industrial medical officers who had an opportunity to be elected to the Council.Dr. F. H. TYRER, supporting Dr. Vaughan Jones's plea, said: " I suggest that our particular interest is broader than that in many specialties."Dr. H. ALEXANDER stated that he had known many instances when reports of other committees contained items of interest to the Occupational Health Com- muittee.If the chairman of the committee were not a member of the Council the signifi- cance of these items might be missed.
Influence of hydrophobic-hydrophilic bile acids on transcytosis and morphology of rat isolated intrahepatic bile ductules A. Benedetti, L. Marucci, C. Bassotti, P. Curto, K. Rapino, A.m. Jezequel, F. Orlandi. Department of Gastroenterology and Inst. of Exp. Pathology, University of Ancona, School of Medicine, Ancona, Italy
Journal: Hepatology (1994)
Influence of hepatitis C virus (HCV) genotype and RNA levels on response to interferon therapy in chronic hepatitis C (CHC) V. Olaso, J. C�rdoba, M. Prieto, S. Pascual, L. Arg�ello, M. Gobernado, and J. Berenguer. Depts of Gastroenterology and Virology. La Fe Hospital, Valencia, Spain
Journal: Hepatology (1995)
BOOK REVIEWS
Authors: J. WHANG-PENG
Journal: JNCI Journal of the National Cancer Institute (1988)

BOOK REVIEWS Get access Catalog of Chromosome Aberrations in Cancer. Felix Mitelman. New York: Liss, 1988, 1, 146 pp. $165.00. JACQUELINE WHANG-PENG JACQUELINE WHANG-PENG Cytogenetic Oncology Section, Medicine Branch, National Cancer InstituteBldg. 10, Rm. 12N226, National Institutes of Health, Bethesda, MD 20892 Search for other works by this author on: Oxford Academic PubMed Google Scholar JNCI: Journal of the National Cancer Institute, Volume 80, Issue 14, 21 September 1988, Page 1169, https://doi.org/10.1093/jnci/80.14.1169 Published: 21 September 1988
11. Microvascular Complications and Foot Care: <i>Standards of Medical Care in Diabetes—2019</i>
Journal: Diabetes Care (2018)

The American Diabetes Association (ADA) “Standards of Medical Care in Diabetes” includes ADA's current clinical practice recommendations and is intended to provide the components of diabetes care, general treatment goals and guidelines, and tools to evaluate quality of care. Members of the ADA Professional Practice Committee, a multidisciplinary expert committee, are responsible for updating the Standards of Care annually, or more frequently as warranted. For a detailed description of ADA standards, statements, and reports, as well as the evidence-grading system for ADA's clinical practice recommendations, please refer to the Standards of Care Introduction. Readers who wish to comment on the Standards of Care are invited to do so at professional.diabetes.org/SOC.
Seventh Annual Meeting of the International SOCiety for Experimental Hematology
Journal: JNCI Journal of the National Cancer Institute (1978)

Seventh Annual Meeting of the International SOCiety for Experimental Hematology JNCI: Journal of the National Cancer Institute, Volume 60, Issue 3, March 1978, Page 719, https://doi.org/10.1093/jnci/60.3.719-a Published: 01 March 1978
Primed liver regeneration in protein convertase subtilisin/kexin type 9 knockout mice is associated with increased lipids uptake and hypercholesterolemia
Authors: Jacopo Gavini, Dana Leuenberger, Daniel Sanchez-Taltavull, Riccardo Tombolini, Vanessa Banz, Daniel Candinas, Deborah Stroka
Journal: Journal of Hepatology (2020)
Infantile Mortality during Child=Birth and Its Prevention.
Journal: JAMA (1896)

Our website uses cookies to enhance your experience. By continuing to use our site, or clicking "Continue," you are agreeing to our Cookie Policy | Continue JAMA HomeNew OnlineCurrent IssueFor Authors Publications JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry (1919-1959) Podcasts Clinical Reviews Editors' Summary Medical News Author Interviews More JN Learning / CMESubscribeJobsInstitutions / LibrariansReprints & Permissions Terms of Use | Privacy Policy | Accessibility Statement 2023 American Medical Association. All Rights Reserved Search All JAMA JAMA Network Open JAMA Cardiology JAMA Dermatology JAMA Forum Archive JAMA Health Forum JAMA Internal Medicine JAMA Neurology JAMA Oncology JAMA Ophthalmology JAMA Otolaryngology–Head & Neck Surgery JAMA Pediatrics JAMA Psychiatry JAMA Surgery Archives of Neurology & Psychiatry Input Search Term Sign In Individual Sign In Sign inCreate an Account Access through your institution Sign In Purchase Options: Buy this article Rent this article Subscribe to the JAMA journal
The Early Achievement of Measurable Residual Disease Negativity in the Treatment of Adults with Philadelphia-Negative B-Cell Acute Lymphoblastic Leukemia Is a Strong Predictor for Survival
Authors: Musa Yilmaz, Hagop M. Kantarjian, Xuemei Wang, Joseph D. Khoury, Farhad Ravandi, Jeffrey L. Jorgensen, Nicholas J. Short, Sanam Loghavi, Jorge E. Cortes, Guillermo Garcia-Manero, Tapan M. Kadia, Koji Sasaki, Marina Y Konopleva, Koichi Takahashi, William G. Wierda, Nitin Jain, Srdan Verstovsek, Zeev E. Estrov, Prithviraj Bose, Sherry A. Pierce, Rebecca Garris, Susan M. O'Brien, Elias Jabbour
Journal: Blood (2019)
A new piece for the puzzle of inflammation
Authors: P. Gunby
Journal: JAMA (1984)

Those "pockets of resistance"—the inflammatory tissue injuries that persist despite aggressive therapy—have led researchers to look for additional mediators of inflammation. Now, they have chemically characterized what one investigator says "may turn out to be one of the most potent mediators known." R. Neal Pinckard, PhD, says the term "mediators" in this work refers to molecules that are believed to modulate the inflammatory process. The hypothesis is that, even when therapy blocks the action of one or two known mediators of inflammation, some yet-to-be-identified molecule(s) with similar biologic properties may continue to cause tissue injury. The recently characterized mediator, Pinckard told an American Heart Association forum for science writers in St Petersburg Beach, Fla, is acetyl glyceryl ether phosphorylcholine (1-O-hexadecyl/octadecyl-2acetyl-<i>sn</i>-glyceryl-3-phophorylcholine), or AGEPC. It also has had "the trivial name," he says, of plateletactivating factor, or PAF. Pinckard, who is professor of pathology and of medicine, University of Texas
Mortality among PVC-Fabricating Employees
Authors: Leonard Chiazze, Lorraine D. Ference
Journal: Environmental Health Perspectives (1981)

The results of a cross-sectional mortality study of 3847 deaths occurring among current and former (white) employees of 17 PVC fabricators during 1964-1973 are presented. Sex-race-cause-specific proportionate mortality ratios (PMR's) were computed by using two separate standards: one, the U.S. mortality in 1968; the second, U.S. mortality for the individual years 1964-1973. In addition, a case-control analysis, based upon 44 breast cancer deaths among white female employees, is presented. PMR's are significantly different from unity for all cancers, and for cancers of the digestive system among both white males and white females. Although observed deaths significantly exceeded expectations for cancer of the breast, a subsequent case-control analysis reveals no statistically significant relative risks for breast cancer.
Audit of 26 years of obstetrics in general practice.
Authors: G. N. Marsh
Journal: BMJ (1989)

To assess the feasibility and quality of general practitioner obstetrics an audit of 1223 consecutive obstetric deliveries over 26 years was carried out with standard clinical records.The perinatal mortality of 9-0 per 1000 births was significantly better than the national average of about 19-0 per 1000 for the overall period.During the audit home deliveries virtually stopped.The proportion of consultant bookings and deliveries more than doubled because of more stringent booking arrange- ments despite relocation of the previously isolated general practitioner unit to beneath the consultant unit.Abnormal deliveries also rose significantly.A "steady state" was achieved during the final 11 years in which 73% of women booked to be delivered by their general practitioner, 64% were admitted to the general practitioner unit, and 54% were delivered by their general practitioner.Though this is enough to sustain obstetric experience, the proportion might safely be increased.